Lipodystrophy due to peptidic growth factors deficiency
ORPHA:1979DiseaseUnknownNeonatal
Фенотипы (HPO)28
Очень частый (80–99%)17
HP:0000160Narrow mouth
HP:0000271Abnormality of the face
HP:0000347Micrognathia
HP:0000444Convex nasal ridge
HP:0000767Pectus excavatum
HP:0000982Palmoplantar keratoderma
HP:0001072Thickened skin
HP:0001371Flexion contracture
HP:0001387Joint stiffness
HP:0001763Pes planus
HP:0001824Weight loss
HP:0003758Reduced subcutaneous adipose tissue
HP:0004326Cachexia
HP:0008065Aplasia/Hypoplasia of the skin
HP:0009125Lipodystrophy
HP:0100578Lipoatrophy
HP:0100679Lack of skin elasticity
Частый (30–79%)11
HP:0000765Abnormal thorax morphology
HP:0001000Abnormality of skin pigmentation
HP:0001595Abnormality of the hair
HP:0002216Premature graying of hair
HP:0002621Atherosclerosis
HP:0002814Abnormality of the lower limb
HP:0002817Abnormality of the upper limb
HP:0003119Abnormal circulating lipid concentration
HP:0004349Reduced bone mineral density
HP:0010980Hyperlipoproteinemia
HP:0100651Type I diabetes mellitus
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 1 | Worldwide | Family(ies) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)